Hum. Mol. Genet. -- Human Molecular Genetics Advance Access by Category

Human Molecular Genetics Advance Access

Human Molecular Genetics Advance Access articles are papers in manuscript form that have been accepted by the journal but have not been copyedited or formatted for publication. Copyediting may lead to minor differences between the Advance Access version and the final version of the paper; there may also be differences in the quality of the graphics. More information, including how to cite Advance Access papers, can be found on the Advance Access page.

Advance Access Articles By Category [View by Date]

ARTICLE

To see an accepted manuscript, click its [Accepted Manuscript] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.

ARTICLE

Abstract Article: Kimihiko Oishi, Hui Zhang, William J. Gault, Cindy J. Wang, Cheryl C. Tan, In-Kyong Kim, Huiwen Ying, Tabassum Rahman, Natalie Pica, Marco Tartaglia, Marek Mlodzik, and Bruce D. Gelb
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 have gain-of-function effects during Drosophila development
Human Molecular Genetics Advance Access published on October 11, 2008.
doi:10.1093/hmg/ddn336
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Abstract Article: Kenji Sakamoto, Michael McCluskey, Theodore G. Wensel, Jürgen K. Naggert, and Patsy M. Nishina
New Mouse Models for Recessive Retinitis Pigmentosa Caused by Mutations in the Pde6a Gene
Human Molecular Genetics Advance Access published on October 11, 2008.
doi:10.1093/hmg/ddn327
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Abstract Article: Noriko Esumi, Shu Kachi, Laszlo Hackler Jr., Tomohiro Masuda, Zhiyong Yang, Peter A. Campochiaro, and Donald J. Zack
BEST1 Expression in the Retinal Pigment Epithelium Is Modulated by OTX Family Members
Human Molecular Genetics Advance Access published on October 10, 2008.
doi:10.1093/hmg/ddn323
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Abstract Article
Tiffiney R. Hartman, Dongyan Liu, Jack T. Zilfou, Victoria Robb, Tasha Morrison, Terry Watnick, and Elizabeth P. Henske
The Tuberous Sclerosis Proteins Regulate Formation of the Primary Cilium via a Rapamycin-Insensitive and Polycystin 1-Independent Pathway
Human Molecular Genetics Advance Access published on October 9, 2008.
doi:10.1093/hmg/ddn325
[Abstract] [Accepted Manuscript] [Supplementary Data] OPEN ACCESS ARTICLE

Abstract Article: Paula Dietrich, Revathi Shanmugasundaram, E. Shuyu, and Ioannis Dragatsis
Congenital hydrocephalus associated with abnormal subcommissural organ in mice lacking huntingtin in Wnt1 cell lineages
Human Molecular Genetics Advance Access published on October 6, 2008.
doi:10.1093/hmg/ddn324
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Abstract Article
Reiner Schulz, Ruth McCole, Kathryn Woodfine, Andrew J. Wood, Mandeep Chahal, David Monk, Gudrun E. Moore, and Rebecca J. Oakey
Transcript- and tissue-specific imprinting of a tumour suppressor gene
Human Molecular Genetics Advance Access published on October 4, 2008.
doi:10.1093/hmg/ddn322
[Abstract] [Accepted Manuscript] [Supplementary Data] OPEN ACCESS ARTICLE

Abstract Article: Veronica Bianchi, Pasqualina Farisello, Pietro Baldelli, Virginia Meskenaite, Marco Milanese, Matteo Vecellio, Sven Mühlemann, Hans Peter Lipp, Giambattista Bonanno, Fabio Benfenati, Daniela Toniolo, and Patrizia D'Adamo
Cognitive impairment in Gdi1 deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training
Human Molecular Genetics Advance Access published on October 1, 2008.
doi:10.1093/hmg/ddn321
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Abstract Article
Michael Briese, Behrooz Esmaeili, Sandrine Fraboulet, Emma C. Burt, Stefanos Christodoulou, Paula R. Towers, Kay E. Davies, and David B. Sattelle
Deletion of smn-1, the Caenorhabditis elegans orthologue of the spinal muscular atrophy gene, results in locomotor dysfunction and reduced lifespan
Human Molecular Genetics Advance Access published on October 1, 2008.
doi:10.1093/hmg/ddn320
[Abstract] [Accepted Manuscript] OPEN ACCESS ARTICLE

Abstract Article: Michelina Iacovino, Caroline Granycome, Hiroshi Sembongi, Monika Bokori-Brown, Ronald A. Butow, Ian J. Holt, and Joseph M. Bateman
The conserved translocase Tim17 prevents mitochondrial DNA loss
Human Molecular Genetics Advance Access published on September 30, 2008.
doi:10.1093/hmg/ddn313
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Abstract Article: Erwin van Wijk, Ferry F.J. Kersten, Aileen Kartono, Dorus A. Mans, Kim Brandwijk, Stef J.F. Letteboer, Theo A. Peters, Tina Märker, Xiumin Yan, Cor W.R.J. Cremers, Frans P.M. Cremers, Uwe Wolfrum, Ronald Roepman, and Hannie Kremer
Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein
Human Molecular Genetics Advance Access published on September 30, 2008.
doi:10.1093/hmg/ddn312
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Abstract Article: Cristina Cheroni, Marianna Marino, Massimo Tortarolo, Pietro Veglianese, Silvia De Biasi, Elena Fontana, Laura Vitellaro Zuccarello, Christa J. Maynard, Nico P. Dantuma, and Caterina Bendotti
Functional alterations of the ubiquitin proteasome system in motor neurons of a mouse model of familial Amyotrophic Lateral Sclerosis
Human Molecular Genetics Advance Access published on September 29, 2008.
doi:10.1093/hmg/ddn319
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Abstract Article: Carine Monnier, Catherine Dodé, Ludovic Fabre, Luis Teixeira, Gilles Labesse, Jean-Philippe Pin, Jean-Pierre Hardelin, and Philippe Rondard
PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling-activity
Human Molecular Genetics Advance Access published on September 29, 2008.
doi:10.1093/hmg/ddn318
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Abstract Article
Carlo Viscomi, Antonella Spinazzola, Marco Maggioni, Erika Fernandez-Vizarra, Valeria Massa, Claudio Pagano, Roberto Vettor, Marina Mora, and Massimo Zeviani
Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice
Human Molecular Genetics Advance Access published on September 29, 2008.
doi:10.1093/hmg/ddn309
[Abstract] [Accepted Manuscript] [Supplementary Data] OPEN ACCESS ARTICLE

Abstract Article
Srikanth Ranganathan, George G. Harmison, Kristin Meyertholen, Maria Pennuto, Barrington G. Burnett, and Kenneth H. Fischbeck
Mitochondrial Abnormalities in Spinal and Bulbar Muscular Atrophy
Human Molecular Genetics Advance Access published on September 29, 2008.
doi:10.1093/hmg/ddn310
[Abstract] [Accepted Manuscript] [Supplementary Data] OPEN ACCESS ARTICLE

Abstract Article: Suzanne L. Mansour, Stephen R. F. Twigg, Rowena M. Freeland, Steven A. Wall, Chaoying Li, and Andrew O. M. Wilkie
Hearing loss in a mouse model of Muenke syndrome
Human Molecular Genetics Advance Access published on September 25, 2008.
doi:10.1093/hmg/ddn311
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Abstract Article: Alessandro Campanella, Elisabetta Rovelli, Paolo Santambrogio, Anna Cozzi, Franco Taroni, and Sonia Levi
MITOCHONDRIAL FERRITIN LIMITS OXIDATIVE DAMAGE REGULATING MITOCHONDRIAL IRON AVAILABILITY: HYPOTHESIS FOR A PROTECTIVE ROLE IN FRIEDREICH ATAXIA
Human Molecular Genetics Advance Access published on September 24, 2008.
doi:10.1093/hmg/ddn308
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Abstract Article: Bo Chang, Md Nawajes A. Mandal, Venkata R. M. Chavali, Norman L. Hawes, Naheed W. Khan, Ronald E. Hurd, Richard S. Smith, Muriel L. Davisson, Laura Kopplin, Barbara E. K. Klein, Ronald Klein, Sudha K. Iyengar, John R. Heckenlively, and Radha Ayyagari
Age-related retinal degeneration (arrd2) in a novel mouse model due to a nonsense mutation in the Mdm1 gene
Human Molecular Genetics Advance Access published on September 23, 2008.
doi:10.1093/hmg/ddn295
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Abstract Article: Xiaowen Wang, Kelly Salinas, Xiaoming Zuo, Blanka Kucejova, and Xin Jie Chen
Dominant Membrane Uncoupling by Mutant Adenine Nucleotide Translocase in Mitochondrial Diseases
Human Molecular Genetics Advance Access published on September 22, 2008.
doi:10.1093/hmg/ddn306
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Abstract Article: Mariya Moosajee, Kevin Gregory-Evans, Charles D. Ellis, Miguel C. Seabra, and Cheryl Y. Gregory-Evans
Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease
Human Molecular Genetics Advance Access published on September 22, 2008.
doi:10.1093/hmg/ddn302
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Abstract Article
Anne S. Bassett, Christian R. Marshall, Anath C. Lionel, Eva W.C. Chow, and Stephen W. Scherer
Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome
Human Molecular Genetics Advance Access published on September 20, 2008.
doi:10.1093/hmg/ddn307
[Abstract] [Accepted Manuscript] [Supplementary Data] OPEN ACCESS ARTICLE

Abstract Article: Akio Masuda, Xin-Ming Shen, Mikako Ito, Tohru Matsuura, Andrew G. Engel, and Kinji Ohno
HnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome
Human Molecular Genetics Advance Access published on September 20, 2008.
doi:10.1093/hmg/ddn305
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Abstract Article: Pierre A. Zalloua, Sami T. Azar, Marc Delépine, Nadine J. Makhoul, Hervé Blanc, May Sanyoura, Anne Lavergne, Karmen Stankov, Arnaud Lemainque, Patrick Baz, and Cécile Julier
WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon
Human Molecular Genetics Advance Access published on September 20, 2008.
doi:10.1093/hmg/ddn304
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Abstract Article: Rosa Pello, Miguel A. Martín, Valerio Carelli, Leo G. Nijtmans, Alessandro Achilli, Maria Pala, Antonio Torroni, Aurora Gómez-Durán, Eduardo Ruiz-Pesini, Andrea Martinuzzi, Jan A. Smeitink, Joaquín Arenas, and Cristina Ugalde
Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease
Human Molecular Genetics Advance Access published on September 19, 2008.
doi:10.1093/hmg/ddn303
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Abstract Article: Amélie Piton, Jacques L. Michaud, Huashan Peng, Swaroop Aradhya, Julie Gauthier, Laurent Mottron, Nathalie Champagne, Ronald G. Lafrenière, Fadi F. Hamdan, S2D team, Ridha Joober, Eric Fombonne, Claude Marineau, Patrick Cossette, Marie-Pierre Dubé, Pejmun Haghighi, Pierre Drapeau, Philip A. Barker, Salvatore Carbonetto, and Guy A. Rouleau
Mutations in the calcium-related gene IL1RAPL1 are associated with autism
Human Molecular Genetics Advance Access published on September 18, 2008.
doi:10.1093/hmg/ddn300
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Abstract Article
Melanie A. Knight, Dena Hernandez, Scott J. Diede, Hans.G. Dauwerse, Ian Rafferty, Joyce van de Leemput, Susan M. Forrest, R.J. McKinlay Gardner, Elsdon Storey, Gert-Jan B. van Ommen, Stephen J. Tapscott, Kenneth H. Fischbeck, and Andrew B. Singleton
A Duplication at Chromosome 11q12.2-11q12.3 is Associated with Spinocerebellar Ataxia Type 20 (SCA20)
Human Molecular Genetics Advance Access published on September 18, 2008.
doi:10.1093/hmg/ddn283
[Abstract] [Accepted Manuscript] OPEN ACCESS ARTICLE

Abstract Article: Glen B Banks, Ariana C Combs, Joel R Chamberlain, and Jeffrey S Chamberlain
Molecular and cellular adaptations to chronic myotendinous strain injury in mdx mice expressing a truncated dystrophin
Human Molecular Genetics Advance Access published on September 16, 2008.
doi:10.1093/hmg/ddn301
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Abstract Article
Carl T. Fulp, Ginam Cho, Eric D. Marsh, Ilya M. Nasrallah, Patricia A. Labosky, and Jeffrey A. Golden
Identification of Arx transcriptional targets in the developing basal forebrain
Human Molecular Genetics Advance Access published on September 16, 2008.
doi:10.1093/hmg/ddn271
[Abstract] [Accepted Manuscript] [Supplementary Data] OPEN ACCESS ARTICLE

Abstract Article: Sabina Domené, Erich Roessler, Kenia B. El-Jaick, Mirit Snir, Jamie L. Brown, Jorge I. Vélez, Sherri Bale, Felicitas Lacbawan, Maximilian Muenke, and Benjamin Feldman
Mutations in the human SIX3 gene in holoprosencephaly are loss-of-function
Human Molecular Genetics Advance Access published on September 12, 2008.
doi:10.1093/hmg/ddn294
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Abstract Article
Jolanta E. Pitera, Peter J. Scambler, and Adrian S. Woolf
Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli
Human Molecular Genetics Advance Access published on September 11, 2008.
doi:10.1093/hmg/ddn297
[Abstract] [Accepted Manuscript] [Supplementary Data] OPEN ACCESS ARTICLE

Abstract Article: Yoshihiro Morishima, Adrienne M. Wang, Zhigang Yu, William B. Pratt, Yoichi Osawa, and Andrew P. Lieberman
CHIP deletion reveals functional redundancy of E3 ligases in promoting degradation of both signaling proteins and expanded glutamine proteins
Human Molecular Genetics Advance Access published on September 10, 2008.
doi:10.1093/hmg/ddn296
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Abstract Article: HaiFang Yin, Hong M Moulton, Yiqi Seow, Corinne Boyd, Jordan Boutilier, Patrick Iverson, and Matthew JA Wood
Cell-penetrating peptide-conjugated antisense oligonucleotides restore systemic muscle and cardiac dystrophin expression and function
Human Molecular Genetics Advance Access published on September 10, 2008.
doi:10.1093/hmg/ddn293
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Abstract Article: Nina Raben, Victoria Hill, Lauren Shea, Shoichi Takikita, Rebecca Baum, Noboru Mizushima, Evelyn Ralston, and Paul Plotz
Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease
Human Molecular Genetics Advance Access published on September 9, 2008.
doi:10.1093/hmg/ddn292
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Abstract Article: Ana I. Alvarez Retuerto, Rita M. Cantor, Joseph G. Gleeson, Anna Ustaszewska, Wendy S. Schackwitz, Len A. Pennacchio, and Daniel H. Geschwind
Association of common variants in the Joubert syndrome gene (AHI1) with autism
Human Molecular Genetics Advance Access published on September 9, 2008.
doi:10.1093/hmg/ddn291
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Abstract Article: Gaelle Douillard-Guilloux, Nina Raben, Shoichi Takikita, Lionel Batista, Catherine Caillaud, and Emmanuel Richard
Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II
Human Molecular Genetics Advance Access published on September 9, 2008.
doi:10.1093/hmg/ddn290
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Abstract Article
Stefania Segditsas, Oliver Sieber, Maesha Deheragoda, Phil East, Andrew Rowan, Rosemary Jeffery, Emma Nye, Susan Clark, Bradley Spencer-Dene, Gordon Stamp, Richard Poulsom, Nirosha Suraweera, Andrew Silver, Mohammad Ilyas, and Ian Tomlinson
Putative direct and indirect Wnt targets identified through consistent gene expression changes in APC-mutant intestinal adenomas from humans and mice
Human Molecular Genetics Advance Access published on September 9, 2008.
doi:10.1093/hmg/ddn286
[Abstract] [Accepted Manuscript] [Supplementary Data] OPEN ACCESS ARTICLE

Abstract Article: Mahmoud Reza Mansouri, Jens Schuster, Jitendra Badhai, Eva-Lena Stattin, Ralf Lösel, Martin Wehling, Birgit Carlsson, Outi Hovatta, Per Olof Karlström, Irina Golovleva, Daniela Toniolo, Silvia Bione, John Peluso, and Niklas Dahl
Alterations in the expression, structure and function of Progesterone Receptor Membrane Component-1 (PGRMC1) in premature ovarian failure
Human Molecular Genetics Advance Access published on September 9, 2008.
doi:10.1093/hmg/ddn274
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Abstract Article: Britta Keyser, Chris Mühlhausen, Achim Dickmanns, Ernst Christensen, Nicole Muschol, Kurt Ullrich, and Thomas Braulke
Disease-causing missense mutations affect enzymatic activity, stability, and oligomerization of glutaryl-CoA dehydrogenase (GCDH)
Human Molecular Genetics Advance Access published on September 5, 2008.
doi:10.1093/hmg/ddn284
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Abstract Article: Anna H. Hakonen, Steffi Goffart, Sanna Marjavaara, Anders Paetau, Helen Cooper, Kimmo Mattila, Milla Lampinen, Antti Sajantila, Tuula Lönnqvist, Johannes N. Spelbrink, and Anu Suomalainen
Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion
Human Molecular Genetics Advance Access published on September 5, 2008.
doi:10.1093/hmg/ddn280
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Abstract Article: Marie L. Lindegaard, Christopher A. Wassif, Boris Vaisman, Marcelo Amar, Elizabeth V. Wasmuth, Robert Shamburek, Lars B. Nielsen, Alan T. Remaley, and Forbes D. Porter
Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndrome
Human Molecular Genetics Advance Access published on September 5, 2008.
doi:10.1093/hmg/ddn278
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Abstract Article: Duncan B. Sparrow, Encarna Guillén-Navarro, Dianne Fatkin, and Sally L. Dunwoodie
Mutation of HAIRY-AND-ENHANCER-OF-SPLIT-7 in Humans Causes Spondylocostal Dysostosis
Human Molecular Genetics Advance Access published on September 5, 2008.
doi:10.1093/hmg/ddn272
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Abstract Article: Diana Zala, Emilie Colin, Hélène Rangone, Géraldine Liot, Sandrine Humbert, and Frédéric Saudou
Phosphorylation of mutant huntingtin at S421 restores anterograde and retrograde transport in neurons
Human Molecular Genetics Advance Access published on September 4, 2008.
doi:10.1093/hmg/ddn281
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Abstract Article: Paulina Heidrych, Ulrike Zimmermann, Andreas Breß, Carsten M. Pusch, Peter Ruth, Markus Pfister, Marlies Knipper, and Nikolaus Blin
Rab8b GTPase, a protein transport regulator, is an interacting partner of otoferlin, defective in a human autosomal recessive deafness form
Human Molecular Genetics Advance Access published on September 4, 2008.
doi:10.1093/hmg/ddn279
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Abstract Article: Joon Kim, Suguna Rani Krishnaswami, and Joseph G. Gleeson
CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium
Human Molecular Genetics Advance Access published on September 4, 2008.
doi:10.1093/hmg/ddn277
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Abstract Article
Jun Liang, Cheryl Clark-Dixon, Shaoxiao Wang, Todd R. Flower, Tara Williams-Hart, Richard Zweig, Lucy C. Robinson, Kelly Tatchell, and Stephan N. Witt
Novel Suppressors of Alpha-Synuclein Toxicity Identified Using Yeast
Human Molecular Genetics Advance Access published on September 4, 2008.
doi:10.1093/hmg/ddn276
[Abstract] [Accepted Manuscript] [Supplementary Data] OPEN ACCESS ARTICLE

Abstract Article: Joana Simões-Correia, Joana Figueiredo, Carla Oliveira, Jolanda van Hengel, Raquel Seruca, Frans van Roy, and Gianpaolo Suriano
Endoplasmic Reticulum Quality Control: a new mechanism of E-cadherin regulation and its implication in cancer
Human Molecular Genetics Advance Access published on September 4, 2008.
doi:10.1093/hmg/ddn249
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Abstract Article: Yuko Hiruma, Noriyoshi Kurihara, Mark A. Subler, Hua Zhou, Christina S. Boykin, Heju Zhang, Seiichi Ishizuka, David W. Dempster, G. David Roodman, and Jolene J. Windle
A SQSTM1/p62 mutation linked to Paget's disease increases the osteoclastogenic potential of the bone microenvironment
Human Molecular Genetics Advance Access published on September 2, 2008.
doi:10.1093/hmg/ddn266
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Abstract Article: Judit Pallos, Laszlo Bodai, Tamas Lukacsovich, Judith M. Purcell, Joan S. Steffan, Leslie Michels Thompson, and J. Lawrence Marsh
Inhibition of specific HDACs and sirtuins suppresses pathogenesis in a Drosophila model of Huntington's disease
Human Molecular Genetics Advance Access published on September 1, 2008.
doi:10.1093/hmg/ddn273
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Abstract Article: Anna Duarri, Oscar Teijido, Tania López-Hernández, Gert C. Scheper, Herve Barriere, Ilja Boor, Fernando Aguado, Antonio Zorzano, Manuel Palacín, Albert Martínez, Gergely L. Lukacs, Marjo S. van der Knaap, Virginia Nunes, and Raúl Estévez
Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects
Human Molecular Genetics Advance Access published on August 30, 2008.
doi:10.1093/hmg/ddn269
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Abstract Article: Alan M. Pittman, Emily Webb, Luis Carvajal-Carmona, Kimberley Howarth, Mariachiara Di-Bernardo, Peter Broderick, Sarah Spain, Axel Walther, Amy Price, Kate Sullivan, Phillip Twiss, Sarah Fielding, Andrew Rowan, Emma Jaeger, Jayaram Vijayakrishnan, Ian Chandler, Steven Penegar, Mobshra Qureshi, Steven Lubbe, Enric Domingo, Zoe Kemp, Ella Barclay, Wendy Wood, Lynn Martin, Maggie Gorman, Huw Thomas, Julian Peto, Timothy Bishop, Richard Gray, Eamonn R. Maher, Anneke Lucassen, David Kerr, Gareth R. Evans, The CORGI Consortium, Tom van Wezel, Hans Morreau, Juul T. Wijnen, John L. Hopper, Melissa C. Southey, Graham G. Giles, Gianluca Severi, Sergi Castellví-Bel, Clara Ruiz-Ponte, Angel Carracedo, Antoni Castells, The EPICOLON Consortium, Asta Försti, Kari Hemminki, Pavel Vodicka, Alessio Naccarati, Lara Lipton, Judy W.C. Ho, K.K. Cheng, Pak C. Sham, J. Luk, Jose A.G. Agúndez, Jose M. Ladero, Miguel de la Hoya, Trinidad Caldés, Iina Niittymäki, Sari Tuupanen, Auli Karhu, Lauri Aaltonen, Jean-Baptiste Cazier, Ian P.M. Tomlinson, and Richard S. Houlston
Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer
Human Molecular Genetics Advance Access published on August 27, 2008.
doi:10.1093/hmg/ddn267
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Abstract Article: Florin Sasarman, Hana Antonicka, and Eric A. Shoubridge
The A3243G tRNA^Leu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect that is partially suppressed by overexpression of the translation elongation factors EFTu and EFG2
Human Molecular Genetics Advance Access published on August 27, 2008.
doi:10.1093/hmg/ddn265
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Abstract Article: Bert Blaauw, Cristina Mammucari, Luana Toniolo, Lisa Agatea, Reimar Abraham, Marco Sandri, Carlo Reggiani, and Stefano Schiaffino
Akt activation prevents the force drop induced by eccentric contractions in dystrophin-deficient skeletal muscle
Human Molecular Genetics Advance Access published on August 27, 2008.
doi:10.1093/hmg/ddn264
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Abstract Article: Katie A. Burren, Dawn Savery, Valentina Massa, Robert M. Kok, John M. Scott, Henk J. Blom, Andrew J. Copp, and Nicholas D.E. Greene
Gene-environment interactions in the causation of neural tube defects: folate deficiency increases susceptibility conferred by loss of Pax3 function
Human Molecular Genetics Advance Access published on August 26, 2008.
doi:10.1093/hmg/ddn262
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Abstract Article: Stéphane Schmucker, Manuela Argentini, Nadège Carelle-Calmels, Alain Martelli, and Hélène Puccio
The in vivo mitochondrial two-step maturation of human frataxin
Human Molecular Genetics Advance Access published on August 25, 2008.
doi:10.1093/hmg/ddn244
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Abstract Article: Iris Eisenberg, Noa Novershtern, Zohar Itzhaki, Michal Becker-Cohen, Menachem Sadeh, Peter HGM Willems, Nir Friedman, Werner JH Koopman, and Stella Mitrani-Rosenbaum
Mitochondrial processes are impaired in hereditary inclusion body myopathy
Human Molecular Genetics Advance Access published on August 23, 2008.
doi:10.1093/hmg/ddn261
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Abstract Article: Tobias Schäfer, Michael Pütz, Soeren Lienkamp, Athina Ganner, Astrid Bergbreiter, Haribaskar Ramachandran, Verena Gieloff, Martin Gerner, Christian Mattonet, Peter G. Czarnecki, John A. Sayer, Edgar A. Otto, Friedhelm Hildebrandt, Albrecht Kramer-Zucker, and Gerd Walz
Genetic and physical interaction between the NPHP5 and NPHP6 gene products
Human Molecular Genetics Advance Access published on August 23, 2008.
doi:10.1093/hmg/ddn260
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Abstract Article: Shankar R. Venugopalan, Melanie A. Amen, Jianbo Wang, Leeyean Wong, Adriana C. Cavender, Rena N. D'Souza, Mikael Akerlund, Steve L. Brody, Tord A. Hjalt, and Brad A. Amendt
Novel Expression and Transcriptional Regulation of FoxJ1 During Oro-facial Morphogenesis
Human Molecular Genetics Advance Access published on August 22, 2008.
doi:10.1093/hmg/ddn258
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Abstract Article
Rosa Rademakers, Jason L. Eriksen, Matt Baker, Todd Robinson, Zeshan Ahmed, Sarah J. Lincoln, NiCole Finch, Nicola J. Rutherford, Richard J. Crook, Keith A. Josephs, Bradley F. Boeve, David S. Knopman, Ronald C. Petersen, Joseph E. Parisi, Richard J. Caselli, Zbigniew K. Wszolek, Ryan J. Uitti, Howard Feldman, Michael L. Hutton, Ian R. Mackenzie, Neill R. Graff-Radford, and Dennis W. Dickson
Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia
Human Molecular Genetics Advance Access published on August 22, 2008.
doi:10.1093/hmg/ddn257
[Abstract] [Accepted Manuscript] [Supplementary Data] OPEN ACCESS ARTICLE

Abstract Article: Frédéric Chevessier, Emmanuelle Girard, Jordi Molgó, Bartling Sönke, Jeanine Koenig, Daniel Hantaï, and Veit Witzemann
A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions
Human Molecular Genetics Advance Access published on August 21, 2008.
doi:10.1093/hmg/ddn251
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Abstract Article: Barbara Royer-Zemmour, Magali Ponsole-Lenfant, Hyam Gara, Patrice Roll, Christian Lèvêque, Annick Massacrier, Géraldine Ferracci, Jennifer Cillario, Andrée Robaglia-Schlupp, Renaud Vincentelli, Pierre Cau, and Pierre Szepetowski
Epileptic and developmental disorders of the speech cortex: ligand/receptor interaction of wild-type and mutant SRPX2 with the plasminogen activator receptor uPAR
Human Molecular Genetics Advance Access published on August 21, 2008.
doi:10.1093/hmg/ddn256
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Abstract Article: Bruno MUGAT, Marie-Laure PARMENTIER, Nathalie BONNEAUD, Ho Yin Edwin CHAN, and Florence MASCHAT
Protective role of Engrailed in a Drosophila model of Huntington's disease
Human Molecular Genetics Advance Access published on August 20, 2008.
doi:10.1093/hmg/ddn255
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Abstract Article: Sébastien Nola, Michael Sebbagh, Sylvie Marchetto, Naël Osmani, Claire Nourry, Stéphane Audebert, Christel Navarro, Rivka Rachel, Mireille Montcouquiol, Nathalie Sans, Sandrine Etienne-Manneville, Jean-Paul Borg, and Marie-Josée Santoni
Scrib regulates PAK activity during the cell migration process
Human Molecular Genetics Advance Access published on August 20, 2008.
doi:10.1093/hmg/ddn248
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Abstract Article
Minoru Hatayama, Tadashi Tomizawa, Kumiko Sakai-Kato, Patrice Bouvagnet, Shingo Kose, Naoko Imamoto, Shigeyuki Yokoyama, Naoko Utsunomiya-Tate, Katsuhiko Mikoshiba, Takanori Kigawa, and Jun Aruga
Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain
Human Molecular Genetics Advance Access published on August 20, 2008.
doi:10.1093/hmg/ddn239
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Abstract Article: Katherine A. Fantauzzo, Marija Tadin-Strapps, Yun You, Sarah E. Mentzer, Friedrich A.M. Baumeister, Stefano Cianfarani, Lionel Van Maldergem, Dorothy Warburton, John P. Sundberg, and Angela M. Christiano
A Position Effect on TRPS1 is Associated with Ambras Syndrome in Humans and the Koala Phenotype in Mice
Human Molecular Genetics Advance Access published on August 19, 2008.
doi:10.1093/hmg/ddn247
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Abstract Article: Judith Blanz, Stijn Stroobants, Renate Lüllmann-Rauch, Willy Morelle, Meike Lüdemann, Rudi D'Hooge, Helena Reuterwall, Jean Claude Michalski, Jens Fogh, Claes Andersson, and Paul Saftig
Reversal of Peripheral and Central Neural Storage and Ataxia after Recombinant Enzyme Replacement Therapy in ${alpha}$ -Mannosidosis Mice
Human Molecular Genetics Advance Access published on August 19, 2008.
doi:10.1093/hmg/ddn237
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Abstract Article: James R. Maxwell, Catherine Potter, Kimme L. Hyrich, BRAGGSS, Anne Barton, Jane Worthington, John D. Isaacs, Ann W. Morgan, and Anthony G. Wilson
Association of the tumour necosis factor -308 variant with differential response to anti-TNF agents in the treatment of rheumatoid arthritis
Human Molecular Genetics Advance Access published on August 19, 2008.
doi:10.1093/hmg/ddn245
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Abstract Article: George Trimis, Ioulia Chatzistamou, Katerina Politi, Hippokratis Kiaris, and Athanasios G. Papavassiliou
Expression of p21^waf1/Cip1 in stromal fibroblasts of primary breast tumors
Human Molecular Genetics Advance Access published on August 18, 2008.
doi:10.1093/hmg/ddn252
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Abstract Article: Ilaria Palmisano, Paola Bagnato, Angela Palmigiano, Giulio Innamorati, Giuseppe Rotondo, Domenico Altimare, Consuelo Venturi, Elena V. Sviderskaya, Rosanna Piccirillo, Massimiliano Coppola, Valeria Marigo, Barbara Incerti, Andrea Ballabio, Enrico M. Surace, Carlo Tacchetti, Dorothy C. Bennett, and Maria Vittoria Schiaffino
THE OCULAR ALBINISM TYPE 1 (OA1) PROTEIN, AN INTRACELLULAR G PROTEIN-COUPLED RECEPTOR, REGULATES MELANOSOME TRANSPORT IN PIGMENT CELLS
Human Molecular Genetics Advance Access published on August 18, 2008.
doi:10.1093/hmg/ddn241
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Abstract Article
Martin J. Barron, Steven J. Brookes, Clare E. Draper, David Garrod, Jennifer Kirkham, Roger C. Shore, and Michael J. Dixon
The cell adhesion molecule nectin-1 is critical for normal enamel formation in mice
Human Molecular Genetics Advance Access published on August 14, 2008.
doi:10.1093/hmg/ddn243
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Abstract Article: Lu Qi, Peter Kraft, David J. Hunter, and Frank B. Hu
The Common Obesity Variant near MC4R Gene Is Associated with Higher Intakes of Total Energy and Dietary Fat, Weight Change, and Diabetes Risk in Women
Human Molecular Genetics Advance Access published on August 12, 2008.
doi:10.1093/hmg/ddn242
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Abstract Article: Gorazd B. Stokin, Angels Almenar-Queralt, Shermali Gunawardena, Elizabeth M. Rodrigues, Tomás Falzone, Jungsu Kim, Concepción Lillo, Stephanie L. Mount, Elizabeth A. Roberts, Eileen McGowan, David S. Williams, and Lawrence S.B. Goldstein
AMYLOID PRECURSOR PROTEIN-INDUCED AXONOPATHIES ARE INDEPENDENT OF AMYLOID-β PEPTIDES
Human Molecular Genetics Advance Access published on August 11, 2008.
doi:10.1093/hmg/ddn240
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Abstract Article: Bhaskar Chanda, Mika Asai-Coakwell, Ming Ye, Andrew J. Mungall, Margaret Barrow, William B. Dobyns, Hourinaz Behesti, Jane C. Sowden, Nigel P. Carter, Michael A. Walter, and Ordan J. Lehmann
A novel mechanistic spectrum underlies glaucoma associated chromosome 6p25 copy number variation
Human Molecular Genetics Advance Access published on August 11, 2008.
doi:10.1093/hmg/ddn238
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Article: This article was published online in error and has been removed by the publisher.
Human Molecular Genetics Advance Access published on May 3, 2007.
doi:10.1093/hmg/ddm077
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